Varaico: Literature-Extracted Genetic Variants

PALB2

2,283 papers

RefSeq Summary

This gene encodes a protein that may function in tumor suppression. This protein binds to and colocalizes with the breast cancer 2 early onset protein (BRCA2) in nuclear foci and likely permits the st...

Pfam Domains

PALB2_WD40aa 542–889UCSCPartner and localizer of BRCA2 WD40 domain

PALB2_WD40aa 1039–1105UCSCPartner and localizer of BRCA2 WD40 domain

Gene Aliases

HGNC Name

partner and localizer of BRCA2

HGNC Alias Symbols

FLJ21816; FANCN

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_024675.4

p.I730fs

c.2188_2189fs

Surrounding Variants

1 paper

NM_024675.4

p.L731L

c.2191T>C

1 paper

NM_024675.4

p.I730delFs

c.2190delG

4 papers

NM_024675.4

p.L731*

c.2192T>G

4 papers

NM_024675.4

p.L731*

c.2192T>A

2 papers

NM_024675.4

p.I730V

c.2188A>G

2 papers

NM_024675.4

p.P729delFs

c.2187delG

1 paper

NM_024675.4

p.P729delFs

c.2186_2187delGG

1 paper

NM_024675.4

p.P729P

c.2187C>T

1 paper

NM_024675.4

p.T721_P729insFs

c.2161_2186dup26

1 paper

NM_024675.4

p.P729fs

c.2185_2186fs

1 paper

NM_024675.4

p.L731L

c.2193A>G

1 paper

NM_024675.4

p.L731insFs

c.2192dupT